FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term spondylometaphyseal dysplasia with corneal dystrophy ID (Ontology) DOID:0112303 (Human Disease)
Definition A spondylometaphyseal dysplasia characterized by spondylometaphyseal dysplasia and corneal dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the PLCB3 gene on chromosome 11q13.1.
Also Known As "SMDCD"
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 Genes
 spondylometaphyseal dysplasia with corneal dystrophy       1
 for disease ribbon | spondylometaphyseal dysplasia with corneal dystrophy       1
 model of | spondylometaphyseal dysplasia with corneal dystrophy       1
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal recessive disease____
osteochondrodysplasia              |
 |__spondylometaphyseal dysplasia__|
                                   spondylometaphyseal dysplasia with corneal dystrophy  1 rec.
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Is a autosomal recessive disease
spondylometaphyseal dysplasia
Part of
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Synonyms
  • "SMDCD" EXACT OMO:0003012
Secondary IDs
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MIM:618961